Associated Genetic Biomarkers

Overview

NCI Definition: The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17. [1]

Clinical Trials

There
are 10 clinical trials
for neurofibromatosis type 1, of which 8
are
open and 2
are
completed or closed.
Of the
trials that contain
neurofibromatosis type 1 as an inclusion criterion, 2 are phase 1/phase 2 (2 open), 7 are phase 2 (5 open), and 1 is phase 3 (1 open).

Significant Genes in Neurofibromatosis Type 1

ARAF
+

ARAF is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
ARAF status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

BRAF
+

BRAF is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
BRAF status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

CRKL
+

CRKL is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
CRKL status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

FLT3
+

FLT3 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 0
are open and 1
is closed.
Of the
trial that contains
FLT3 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 2 (0 open) [3].

HRAS
+

HRAS is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
HRAS status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

KIAA1549
+

KIAA1549 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
KIAA1549 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

KRAS
+

KRAS is an inclusion eligibility criterion in 2 clinical
trials
for neurofibromatosis type 1, of which 1
is open and 1
is closed.
Of the
trials that contain
KRAS status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) and 1 is phase 2 (0 open) [3].

MAP2K1
+

MAP2K1 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
MAP2K1 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

MAP2K2
+

MAP2K2 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
MAP2K2 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

MAP2K4
+

MAP2K4 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
MAP2K4 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

MAP3K1
+

MAP3K1 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
MAP3K1 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

MAPK1
+

MAPK1 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
MAPK1 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

NF1
+

NF1 is an inclusion eligibility criterion in 7 clinical
trials
for neurofibromatosis type 1, of which 6
are open and 1
is closed.
Of the
trials that contain
NF1 status and neurofibromatosis type 1 as inclusion criteria, 2 are phase 1/phase 2 (2 open) and 5 are phase 2 (4 open) [3].

NRAS
+

NRAS is an inclusion eligibility criterion in 2 clinical
trials
for neurofibromatosis type 1, of which 1
is open and 1
is closed.
Of the
trials that contain
NRAS status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) and 1 is phase 2 (0 open) [3].

PTPN11
+

PTPN11 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 0
are open and 1
is closed.
Of the
trial that contains
PTPN11 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 2 (0 open) [3].

RAF1
+

RAF1 is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
RAF1 status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

SRC
+

SRC is an inclusion eligibility criterion in 1 clinical
trial
for neurofibromatosis type 1, of which 1
is open and 0
are closed.
Of the
trial that contains
SRC status and neurofibromatosis type 1 as inclusion criteria, 1 is phase 1/phase 2 (1 open) [3].

References

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.